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Retracted

This article has been retracted as the same case report was found to have been presented in the following previously published article: “Achondroplasia with 47, xxy karyotype: A case report of the neonatal diagnosis of an extremely unusual association,” BMC Pediatrics 2012, 12:88. The article has also been published without the consent of Dr. Cristina Martinez-Payo. The first author, Dr. Esther Perez-Carbajo, assumes full responsibility.

Abstract

Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.